نشانگان FG

FG SYNDROME

This report introduces a rare syndrome. This syndrome calfed FG syndrome and the first case introduced in Iran is a rare X-Linked recessive condition in which mental retardation is associated with congenitaf hypotonia, macrocephaly ,characterisitic face and constipation. The case is a 4 year old boy who presented with clinical symptoms of fever and seizures and was admitted of Imam Hossein Hospital. The seizures were tonic clonic in type and the history of seizures dated back to time when the patient was one year old the child was the 6 th issue and two maternal uncles of the patient had died during infancy. Patient had a huge head (dolicocephaly), short stature, prominent abdomen, mild mental retardation and a characteristic face. In x-ray skull, craniosynostosis is reported. An EEG was obtained which revealed seizure pattern. In CT scan of brain; corpus callosum was absent. for a cardiac murmur, an echocardiography was obtained which showed a mild aortic stenosis. A sonography of the urinary tract showed distension of the pelvis. All the finding were compatable with FG syndrome.